Incidental Mutation 'R8853:Trappc11'
| ID |
675120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
068675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47982439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 100
(F100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033973]
[ENSMUST00000039061]
[ENSMUST00000175692]
[ENSMUST00000176379]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033973
|
| SMART Domains |
Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
low complexity region
|
131 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039061
AA Change: F100S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: F100S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Foie-gras_1
|
263 |
522 |
3e-78 |
PFAM |
|
Pfam:Gryzun
|
978 |
1114 |
3.9e-10 |
PFAM |
|
Pfam:Gryzun-like
|
1036 |
1095 |
2.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176379
|
| SMART Domains |
Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,882,994 (GRCm39) |
Y290F |
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,311,337 (GRCm39) |
L136M |
possibly damaging |
Het |
| Arpp21 |
T |
G |
9: 111,976,516 (GRCm39) |
T322P |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,351,148 (GRCm39) |
V128M |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,879 (GRCm39) |
V1523A |
possibly damaging |
Het |
| Copg2 |
G |
C |
6: 30,803,115 (GRCm39) |
L277V |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,456,645 (GRCm39) |
T12A |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,024 (GRCm39) |
C115S |
probably damaging |
Het |
| Defb35 |
G |
A |
8: 22,430,806 (GRCm39) |
R60Q |
unknown |
Het |
| Dlgap3 |
T |
A |
4: 127,088,810 (GRCm39) |
D135E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,117,645 (GRCm39) |
W2215R |
possibly damaging |
Het |
| Eea1 |
G |
C |
10: 95,857,517 (GRCm39) |
A660P |
|
Het |
| Egfr |
A |
G |
11: 16,858,885 (GRCm39) |
I955V |
possibly damaging |
Het |
| Eif3b |
G |
A |
5: 140,425,774 (GRCm39) |
V655M |
probably damaging |
Het |
| Elp3 |
T |
A |
14: 65,815,390 (GRCm39) |
I220F |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,772,967 (GRCm39) |
V550A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,460,647 (GRCm39) |
S857L |
possibly damaging |
Het |
| Glt28d2 |
T |
A |
3: 85,779,087 (GRCm39) |
M129L |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,726 (GRCm39) |
Y2742N |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,979 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Myh14 |
G |
A |
7: 44,265,678 (GRCm39) |
T1559I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,119,744 (GRCm39) |
F783L |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,290,487 (GRCm39) |
A702V |
probably damaging |
Het |
| Ndnf |
C |
A |
6: 65,680,161 (GRCm39) |
Q147K |
probably benign |
Het |
| Necab2 |
C |
G |
8: 120,189,339 (GRCm39) |
R170G |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,063,690 (GRCm39) |
I59T |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,454,276 (GRCm39) |
S211P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,725 (GRCm39) |
Q483L |
possibly damaging |
Het |
| Or6k14 |
T |
C |
1: 173,927,861 (GRCm39) |
V279A |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,106,119 (GRCm39) |
T245A |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,493,945 (GRCm39) |
T389M |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,744 (GRCm39) |
K638E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,679 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,688,967 (GRCm39) |
D67G |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,884 (GRCm39) |
R298* |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,103,893 (GRCm39) |
I125V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,090,110 (GRCm39) |
V71A |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,650,897 (GRCm39) |
V209A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,298,198 (GRCm39) |
L414P |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,464,855 (GRCm39) |
D601G |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,912,089 (GRCm39) |
N199K |
probably benign |
Het |
| Rin2 |
G |
T |
2: 145,718,475 (GRCm39) |
A652S |
possibly damaging |
Het |
| Rnf34 |
T |
C |
5: 123,002,087 (GRCm39) |
L88P |
possibly damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,914 (GRCm39) |
I194V |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,415 (GRCm39) |
S255P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,641 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
C |
A |
14: 20,711,442 (GRCm39) |
G622C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,795,382 (GRCm39) |
C582R |
probably damaging |
Het |
| Tex261 |
A |
T |
6: 83,750,727 (GRCm39) |
I90N |
probably damaging |
Het |
| Trhde |
G |
A |
10: 114,636,830 (GRCm39) |
P126S |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,737 (GRCm39) |
V694E |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,782 (GRCm39) |
L600Q |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,634,227 (GRCm39) |
C2174Y |
|
Het |
| Wee2 |
A |
G |
6: 40,441,200 (GRCm39) |
T502A |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,823,390 (GRCm39) |
|
silent |
Het |
| Zfp40 |
T |
A |
17: 23,394,691 (GRCm39) |
H632L |
possibly damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,740,965 (GRCm39) |
S378G |
probably damaging |
Het |
|
| Other mutations in Trappc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Trappc11
|
APN |
8 |
47,956,337 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01300:Trappc11
|
APN |
8 |
47,954,903 (GRCm39) |
missense |
probably benign |
|
|
IGL01312:Trappc11
|
APN |
8 |
47,958,712 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01344:Trappc11
|
APN |
8 |
47,972,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01518:Trappc11
|
APN |
8 |
47,954,904 (GRCm39) |
splice site |
probably null |
|
|
IGL01747:Trappc11
|
APN |
8 |
47,972,656 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01781:Trappc11
|
APN |
8 |
47,967,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01908:Trappc11
|
APN |
8 |
47,957,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01956:Trappc11
|
APN |
8 |
47,981,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02266:Trappc11
|
APN |
8 |
47,958,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Trappc11
|
APN |
8 |
47,983,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,960,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Trappc11
|
APN |
8 |
47,946,448 (GRCm39) |
splice site |
probably benign |
|
|
IGL03030:Trappc11
|
APN |
8 |
47,966,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03393:Trappc11
|
APN |
8 |
47,963,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
bantu
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
bunyoro
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
nyoro
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
serval
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0043:Trappc11
|
UTSW |
8 |
47,958,610 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Trappc11
|
UTSW |
8 |
47,981,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0529:Trappc11
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0538:Trappc11
|
UTSW |
8 |
47,956,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0740:Trappc11
|
UTSW |
8 |
47,977,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1352:Trappc11
|
UTSW |
8 |
47,978,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Trappc11
|
UTSW |
8 |
47,983,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1589:Trappc11
|
UTSW |
8 |
47,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Trappc11
|
UTSW |
8 |
47,982,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2292:Trappc11
|
UTSW |
8 |
47,958,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Trappc11
|
UTSW |
8 |
47,956,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2931:Trappc11
|
UTSW |
8 |
47,956,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Trappc11
|
UTSW |
8 |
47,951,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3714:Trappc11
|
UTSW |
8 |
47,958,351 (GRCm39) |
intron |
probably benign |
|
|
R3739:Trappc11
|
UTSW |
8 |
47,967,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4165:Trappc11
|
UTSW |
8 |
47,978,003 (GRCm39) |
splice site |
probably benign |
|
|
R4581:Trappc11
|
UTSW |
8 |
47,946,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4598:Trappc11
|
UTSW |
8 |
47,966,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4939:Trappc11
|
UTSW |
8 |
47,972,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Trappc11
|
UTSW |
8 |
47,943,930 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4994:Trappc11
|
UTSW |
8 |
47,975,476 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Trappc11
|
UTSW |
8 |
47,965,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5123:Trappc11
|
UTSW |
8 |
47,966,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5176:Trappc11
|
UTSW |
8 |
47,963,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5279:Trappc11
|
UTSW |
8 |
47,958,339 (GRCm39) |
intron |
probably benign |
|
|
R5293:Trappc11
|
UTSW |
8 |
47,946,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5294:Trappc11
|
UTSW |
8 |
47,983,766 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5661:Trappc11
|
UTSW |
8 |
47,965,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5838:Trappc11
|
UTSW |
8 |
47,965,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5889:Trappc11
|
UTSW |
8 |
47,972,613 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5952:Trappc11
|
UTSW |
8 |
47,949,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5959:Trappc11
|
UTSW |
8 |
47,954,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6239:Trappc11
|
UTSW |
8 |
47,982,529 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6322:Trappc11
|
UTSW |
8 |
47,983,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6369:Trappc11
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
|
R7541:Trappc11
|
UTSW |
8 |
47,958,617 (GRCm39) |
splice site |
probably null |
|
|
R7544:Trappc11
|
UTSW |
8 |
47,975,449 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7762:Trappc11
|
UTSW |
8 |
47,975,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Trappc11
|
UTSW |
8 |
47,979,979 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8183:Trappc11
|
UTSW |
8 |
47,982,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8282:Trappc11
|
UTSW |
8 |
47,969,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8733:Trappc11
|
UTSW |
8 |
47,954,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Trappc11
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9544:Trappc11
|
UTSW |
8 |
47,972,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9709:Trappc11
|
UTSW |
8 |
47,946,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTGGCCATGAACAAGG -3'
(R):5'- AATTTCTGATGGGCTGACTTTCTC -3'
Sequencing Primer
(F):5'- CCATGAACAAGGGGCCGTG -3'
(R):5'- TGTGCACACTGGCTGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation